17 | g.42404633del | CA2637956364 | CAVIN1 | c.*54del (n.*54del)
| gnomAD v4 |
17 | g.42404633G>A | CA2637956365 | CAVIN1 | c.*54C>T (n.*54C>T)
| gnomAD v4 |
17 | g.42404633G>C | CA2637956366 | CAVIN1 | c.*54C>G (n.*54C>G)
| gnomAD v4 |
17 | g.42404633G>T | CA2637956367 | CAVIN1 | c.*54C>A (n.*54C>A)
| gnomAD v4 |
17 | g.42404634A= | CA2260466719 | CAVIN1 | c.*53T= (n.*53T=)
| |
17 | g.42404634A>G | CA2637956368 | CAVIN1 | c.*53T>C (n.*53T>C)
| gnomAD v4 |
17 | g.42404634A>T | CA2260466718 | CAVIN1 | c.*53T>A (n.*53T>A)
| dbSNP gnomAD v4 |
17 | g.42404635A>G | CA2637956369 | CAVIN1 | c.*52T>C (n.*52T>C)
| gnomAD v4 |
17 | g.42404636A>G | CA2637956370 | CAVIN1 | c.*51T>C (n.*51T>C)
| gnomAD v4 |
17 | g.42404637G>A | CA2576275129 | CAVIN1 | c.*50C>T (n.*50C>T)
| gnomAD v4 |
17 | g.42404637G>T | CA2637956371 | CAVIN1 | c.*50C>A (n.*50C>A)
| gnomAD v4 |
17 | g.42404638A>G | CA2576275130 | CAVIN1 | c.*49T>C (n.*49T>C)
| gnomAD v4 |
17 | g.42404639G>A | CA8575738 | CAVIN1 | c.*48C>T (n.*48C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42404639G= | CA2260466720 | CAVIN1 | c.*48C= (n.*48C=)
| |
17 | g.42404639G>T | CA2637956373 | CAVIN1 | c.*48C>A (n.*48C>A)
| gnomAD v4 |
17 | g.42404644_42404651del | CA2637956372 | CAVIN1 | c.*41_*48del (n.*41_*48del)
| gnomAD v4 |
17 | g.42404640G>A | CA2637956374 | CAVIN1 | c.*47C>T (n.*47C>T)
| gnomAD v4 |
17 | g.42404640G= | CA2260466721 | CAVIN1 | c.*47C= (n.*47C=)
| |
17 | g.42404640G>T | CA626050328 | CAVIN1 | c.*47C>A (n.*47C>A)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42404641A= | CA2260466722 | CAVIN1 | c.*46T= (n.*46T=)
| |
17 | g.42404641A>G | CA2637956375 | CAVIN1 | c.*46T>C (n.*46T>C)
| gnomAD v4 |
17 | g.42404641A>T | CA2260466723 | CAVIN1 | c.*46T>A (n.*46T>A)
| dbSNP |
17 | g.42404642A>C | CA2637956376 | CAVIN1 | c.*45T>G (n.*45T>G)
| gnomAD v4 |
17 | g.42404642A>G | CA2637956377 | CAVIN1 | c.*45T>C (n.*45T>C)
| gnomAD v4 |
17 | g.42404643G>A | CA983833707 | CAVIN1 | c.*44C>T (n.*44C>T)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.42404643G= | CA2260466724 | CAVIN1 | c.*44C= (n.*44C=)
| |
17 | g.42404643G>T | CA2637956378 | CAVIN1 | c.*44C>A (n.*44C>A)
| gnomAD v4 |
17 | g.42404644T>C | CA2637956379 | CAVIN1 | c.*43A>G (n.*43A>G)
| gnomAD v4 |
17 | g.42404645T>G | CA2637956380 | CAVIN1 | c.*42A>C (n.*42A>C)
| gnomAD v4 |
17 | g.42404646C>A | CA2637956381 | CAVIN1 | c.*41G>T (n.*41G>T)
| gnomAD v4 |
17 | g.42404646C= | CA2260466725 | CAVIN1 | c.*41G= (n.*41G=)
| |
17 | g.42404646C>G | CA626050329 | CAVIN1 | c.*41G>C (n.*41G>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42404646C>T | CA2637956382 | CAVIN1 | c.*41G>A (n.*41G>A)
| gnomAD v4 |
17 | g.42404647G>A | CA2260466727 | CAVIN1 | c.*40C>T (n.*40C>T)
| dbSNP gnomAD v4 |
17 | g.42404647G= | CA2260466726 | CAVIN1 | c.*40C= (n.*40C=)
| |
17 | g.42404647G>T | CA2576275131 | CAVIN1 | c.*40C>A (n.*40C>A)
| gnomAD v4 |
17 | g.42404648G>A | CA2260466729 | CAVIN1 | c.*39C>T (n.*39C>T)
| dbSNP gnomAD v4 |
17 | g.42404648G>C | CA2741536222 | CAVIN1 | c.*39C>G (n.*39C>G)
| |
17 | g.42404648G= | CA2260466728 | CAVIN1 | c.*39C= (n.*39C=)
| |
17 | g.42404648G>T | CA2637956383 | CAVIN1 | c.*39C>A (n.*39C>A)
| gnomAD v4 |
17 | g.42404649A= | CA2260466730 | CAVIN1 | c.*38T= (n.*38T=)
| |
17 | g.42404649A>C | CA983833708 | CAVIN1 | c.*38T>G (n.*38T>G)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.42404649A>G | CA2637956385 | CAVIN1 | c.*38T>C (n.*38T>C)
| gnomAD v4 |
17 | g.42404650del | CA2637956384 | CAVIN1 | c.*38del (n.*38del)
| gnomAD v4 |
17 | g.42404650A>G | CA2637956386 | CAVIN1 | c.*37T>C (n.*37T>C)
| gnomAD v4 |
17 | g.42404650A>T | CA2637956387 | CAVIN1 | c.*37T>A (n.*37T>A)
| gnomAD v4 |
17 | g.42404651G>A | CA8575739 | CAVIN1 | c.*36C>T (n.*36C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42404651G>C | CA2637956388 | CAVIN1 | c.*36C>G (n.*36C>G)
| gnomAD v4 |
17 | g.42404651G= | CA2260466731 | CAVIN1 | c.*36C= (n.*36C=)
| |
17 | g.42404651G>T | CA2637956389 | CAVIN1 | c.*36C>A (n.*36C>A)
| gnomAD v4 |
17 | g.42404652G>A | CA626050330 | CAVIN1 | c.*35C>T (n.*35C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42404652G>C | CA2637956391 | CAVIN1 | c.*35C>G (n.*35C>G)
| gnomAD v4 |
17 | g.42404652G= | CA2260466732 | CAVIN1 | c.*35C= (n.*35C=)
| |
17 | g.42404652G>T | CA2637956390 | CAVIN1 | c.*35C>A (n.*35C>A)
| gnomAD v4 |
17 | g.42404653A>G | CA2637956392 | CAVIN1 | c.*34T>C (n.*34T>C)
| gnomAD v4 |
17 | g.42404654G>A | CA2637956393 | CAVIN1 | c.*33C>T (n.*33C>T)
| gnomAD v4 |
17 | g.42404654G>T | CA2637956394 | CAVIN1 | c.*33C>A (n.*33C>A)
| gnomAD v4 |
17 | g.42404655C>A | CA772120392 | CAVIN1 | c.*32G>T (n.*32G>T)
| dbSNP gnomAD v4 |
17 | g.42404655C= | CA2260466733 | CAVIN1 | c.*32G= (n.*32G=)
| |
17 | g.42404655C>G | CA2637956395 | CAVIN1 | c.*32G>C (n.*32G>C)
| gnomAD v4 |
17 | g.42404655C>T | CA2576275132 | CAVIN1 | c.*32G>A (n.*32G>A)
| gnomAD v4 |
17 | g.42404656G>A | CA2637956396 | CAVIN1 | c.*31C>T (n.*31C>T)
| gnomAD v4 |
17 | g.42404656G>C | CA8575740 | CAVIN1 | c.*31C>G (n.*31C>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42404656G= | CA2260466734 | CAVIN1 | c.*31C= (n.*31C=)
| |
17 | g.42404656G>T | CA2637956397 | CAVIN1 | c.*31C>A (n.*31C>A)
| gnomAD v4 |
17 | g.42404657A>G | CA2637956398 | CAVIN1 | c.*30T>C (n.*30T>C)
| gnomAD v4 |
17 | g.42404658G>A | CA626050331 | CAVIN1 | c.*29C>T (n.*29C>T)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42404658G>C | CA2637956399 | CAVIN1 | c.*29C>G (n.*29C>G)
| gnomAD v4 |
17 | g.42404658G= | CA2260466735 | CAVIN1 | c.*29C= (n.*29C=)
| |
17 | g.42404658G>T | CA2637956400 | CAVIN1 | c.*29C>A (n.*29C>A)
| gnomAD v4 |
17 | g.42404659G>A | CA2637956401 | CAVIN1 | c.*28C>T (n.*28C>T)
| gnomAD v4 |
17 | g.42404659G>T | CA2637956402 | CAVIN1 | c.*28C>A (n.*28C>A)
| gnomAD v4 |
17 | g.42404660A>G | CA2637956403 | CAVIN1 | c.*27T>C (n.*27T>C)
| gnomAD v4 |
17 | g.42404660A>T | CA2637956404 | CAVIN1 | c.*27T>A (n.*27T>A)
| gnomAD v4 |
17 | g.42404661A>C | CA2637956405 | CAVIN1 | c.*26T>G (n.*26T>G)
| gnomAD v4 |
17 | g.42404661A>G | CA2637956406 | CAVIN1 | c.*26T>C (n.*26T>C)
| gnomAD v4 |
17 | g.42404661A>T | CA2637956407 | CAVIN1 | c.*26T>A (n.*26T>A)
| gnomAD v4 |
17 | g.42404662T>A | CA2637956408 | CAVIN1 | c.*25A>T (n.*25A>T)
| gnomAD v4 |
17 | g.42404662T>C | CA2576275133 | CAVIN1 | c.*25A>G (n.*25A>G)
| gnomAD v4 |
17 | g.42404663G>A | CA2637956409 | CAVIN1 | c.*24C>T (n.*24C>T)
| gnomAD v4 |
17 | g.42404663G>T | CA2576275135 | CAVIN1 | c.*24C>A (n.*24C>A)
| gnomAD v4 |
17 | g.42404666del | CA2576275134 | CAVIN1 | c.*24del (n.*24del)
| gnomAD v4 |
17 | g.42404664G>A | CA2637956410 | CAVIN1 | c.*23C>T (n.*23C>T)
| gnomAD v4 |
17 | g.42404664G>T | CA2637956411 | CAVIN1 | c.*23C>A (n.*23C>A)
| gnomAD v4 |
17 | g.42404665G>A | CA2637956412 | CAVIN1 | c.*22C>T (n.*22C>T)
| gnomAD v4 |
17 | g.42404665G>C | CA2637956413 | CAVIN1 | c.*22C>G (n.*22C>G)
| gnomAD v4 |
17 | g.42404665G>T | CA2637956414 | CAVIN1 | c.*22C>A (n.*22C>A)
| gnomAD v4 |
17 | g.42404666G>A | CA8575741 | CAVIN1 | c.*21C>T (n.*21C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42404666G= | CA2260466736 | CAVIN1 | c.*21C= (n.*21C=)
| |
17 | g.42404666G>T | CA2637956415 | CAVIN1 | c.*21C>A (n.*21C>A)
| gnomAD v4 |
17 | g.42404667T>A | CA2637956416 | CAVIN1 | c.*20A>T (n.*20A>T)
| gnomAD v4 |
17 | g.42404667T>C | CA2637956417 | CAVIN1 | c.*20A>G (n.*20A>G)
| gnomAD v4 |
17 | g.42404667T>G | CA626050333 | CAVIN1 | c.*20A>C (n.*20A>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42404667T= | CA2260466737 | CAVIN1 | c.*20A= (n.*20A=)
| |
17 | g.42404668G>A | CA2576275136 | CAVIN1 | c.*19C>T (n.*19C>T)
| gnomAD v4 |
17 | g.42404668G>T | CA2637956418 | CAVIN1 | c.*19C>A (n.*19C>A)
| gnomAD v4 |
17 | g.42404670del | CA2637956419 | CAVIN1 | c.*19del (n.*19del)
| gnomAD v4 |
17 | g.42404669_42404670del | CA2809521820 | CAVIN1 | c.*18_*19del (n.*18_*19del)
| |
17 | g.42404669G>A | CA2637956420 | CAVIN1 | c.*18C>T (n.*18C>T)
| gnomAD v4 |
17 | g.42404669G>C | CA2637956421 | CAVIN1 | c.*18C>G (n.*18C>G)
| gnomAD v4 |
17 | g.42404669G= | CA2260466738 | CAVIN1 | c.*18C= (n.*18C=)
| |
17 | g.42404669G>T | CA626050335 | CAVIN1 | c.*18C>A (n.*18C>A)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42404670G>A | CA2637956422 | CAVIN1 | c.*17C>T (n.*17C>T)
| gnomAD v4 |
17 | g.42404670G>T | CA2637956423 | CAVIN1 | c.*17C>A (n.*17C>A)
| gnomAD v4 |
17 | g.42404671del | CA2637956424 | CAVIN1 | c.*16del (n.*16del)
| gnomAD v4 |
17 | g.42404671T>A | CA2637956425 | CAVIN1 | c.*16A>T (n.*16A>T)
| gnomAD v4 |
17 | g.42404671T>C | CA2565468401 | CAVIN1 | c.*16A>G (n.*16A>G)
| gnomAD v4 |
17 | g.42404671T>G | CA2637956426 | CAVIN1 | c.*16A>C (n.*16A>C)
| gnomAD v4 |
17 | g.42404672G>A | CA2576275137 | CAVIN1 | c.*15C>T (n.*15C>T)
| gnomAD v4 |
17 | g.42404672G>T | CA2637956427 | CAVIN1 | c.*15C>A (n.*15C>A)
| gnomAD v4 |
17 | g.42404673G>A | CA2637956428 | CAVIN1 | c.*14C>T (n.*14C>T)
| gnomAD v4 |
17 | g.42404673G>T | CA2576275138 | CAVIN1 | c.*14C>A (n.*14C>A)
| gnomAD v4 |
17 | g.42404674C>A | CA2637956429 | CAVIN1 | c.*13G>T (n.*13G>T)
| gnomAD v4 |
17 | g.42404674C>G | CA2576275139 | CAVIN1 | c.*13G>C (n.*13G>C)
| |
17 | g.42404674C>T | CA2576275140 | CAVIN1 | c.*13G>A (n.*13G>A)
| gnomAD v4 |
17 | g.42404675A>G | CA2637956430 | CAVIN1 | c.*12T>C (n.*12T>C)
| gnomAD v4 |
17 | g.42404675A>T | CA2637956431 | CAVIN1 | c.*12T>A (n.*12T>A)
| gnomAD v4 |
17 | g.42404676G>A | CA2637956432 | CAVIN1 | c.*11C>T (n.*11C>T)
| gnomAD v4 |
17 | g.42404676G>C | CA2637956433 | CAVIN1 | c.*11C>G (n.*11C>G)
| gnomAD v4 |
17 | g.42404676G>T | CA2576275141 | CAVIN1 | c.*11C>A (n.*11C>A)
| gnomAD v4 |
17 | g.42404677del | CA2637956436 | CAVIN1 | c.*10del (n.*10del)
| gnomAD v4 |
17 | g.42404677C>A | CA2637956435 | CAVIN1 | c.*10G>T (n.*10G>T)
| gnomAD v4 |
17 | g.42404677C= | CA2260466739 | CAVIN1 | c.*10G= (n.*10G=)
| |
17 | g.42404677C>G | CA2637956434 | CAVIN1 | c.*10G>C (n.*10G>C)
| gnomAD v4 |
17 | g.42404677C>T | CA241647 | CAVIN1 | c.*10G>A (n.*10G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42404678G>A | CA772120405 | CAVIN1 | c.*9C>T (n.*9C>T)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.42404678G>C | CA2637956438 | CAVIN1 | c.*9C>G (n.*9C>G)
| gnomAD v4 |
17 | g.42404678G= | CA2260466740 | CAVIN1 | c.*9C= (n.*9C=)
| |
17 | g.42404678G>T | CA290750181 | CAVIN1 | c.*9C>A (n.*9C>A)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.42404682dup | CA2637956437 | CAVIN1 | c.*9dup (n.*9dup)
| gnomAD v4 |
17 | g.42404682del | CA626050337 | CAVIN1 | c.*9del (n.*9del)
| gnomAD v2 gnomAD v4 |
17 | g.42404679G>A | CA2637956439 | CAVIN1 | c.*8C>T (n.*8C>T)
| gnomAD v4 |
17 | g.42404679G>T | CA2637956440 | CAVIN1 | c.*8C>A (n.*8C>A)
| gnomAD v4 |
17 | g.42404680G>A | CA2260466742 | CAVIN1 | c.*7C>T (n.*7C>T)
| dbSNP gnomAD v4 |
17 | g.42404680G>C | CA2576275142 | CAVIN1 | c.*7C>G (n.*7C>G)
| gnomAD v4 |
17 | g.42404680G= | CA2260466741 | CAVIN1 | c.*7C= (n.*7C=)
| |
17 | g.42404680G>T | CA2637956441 | CAVIN1 | c.*7C>A (n.*7C>A)
| gnomAD v4 |
17 | g.42404681G>A | CA2637956442 | CAVIN1 | c.*6C>T (n.*6C>T)
| gnomAD v4 |
17 | g.42404681G>C | CA2637956443 | CAVIN1 | c.*6C>G (n.*6C>G)
| gnomAD v4 |
17 | g.42404681G= | CA2260466743 | CAVIN1 | c.*6C= (n.*6C=)
| |
17 | g.42404681G>T | CA626050339 | CAVIN1 | c.*6C>A (n.*6C>A)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42404682G>A | CA983833714 | CAVIN1 | c.*5C>T (n.*5C>T)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.42404682G= | CA2260466744 | CAVIN1 | c.*5C= (n.*5C=)
| |
17 | g.42404682G>T | CA2637956444 | CAVIN1 | c.*5C>A (n.*5C>A)
| gnomAD v4 |
17 | g.42404683del | CA2637956445 | CAVIN1 | c.*4del (n.*4del)
| gnomAD v4 |
17 | g.42404683C>A | CA2637956446 | CAVIN1 | c.*4G>T (n.*4G>T)
| gnomAD v4 |
17 | g.42404683C= | CA2260466745 | CAVIN1 | c.*4G= (n.*4G=)
| |
17 | g.42404683C>G | CA2637956447 | CAVIN1 | c.*4G>C (n.*4G>C)
| gnomAD v4 |
17 | g.42404683C>T | CA626050340 | CAVIN1 | c.*4G>A (n.*4G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42404684G>A | CA2637956448 | CAVIN1 | c.*3C>T (n.*3C>T)
| gnomAD v4 |
17 | g.42404684G>C | CA2637956449 | CAVIN1 | c.*3C>G (n.*3C>G)
| gnomAD v4 |
17 | g.42404684G>T | CA2637956450 | CAVIN1 | c.*3C>A (n.*3C>A)
| gnomAD v4 |
17 | g.42404685G>A | CA8575742 | CAVIN1 | c.*2C>T (n.*2C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42404685G>C | CA983833717 | CAVIN1 | c.*2C>G (n.*2C>G)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.42404685G= | CA2260466746 | CAVIN1 | c.*2C= (n.*2C=)
| |
17 | g.42404685G>T | CA2637956451 | CAVIN1 | c.*2C>A (n.*2C>A)
| gnomAD v4 |
17 | g.42404686C>A | CA2637956452 | CAVIN1 | c.*1G>T (n.*1G>T)
| gnomAD v4 |
17 | g.42404686C= | CA2260466747 | CAVIN1 | c.*1G= (n.*1G=)
| |
17 | g.42404686C>G | CA2733646995 | CAVIN1 | c.*1G>C (n.*1G>C)
| dbSNP |
17 | g.42404686C>T | CA8575743 | CAVIN1 | c.*1G>A (n.*1G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42404687T>A | CA399581815 | CAVIN1 | c.1173A>T (p.Ter391Cys)
| gnomAD v4 |
17 | g.42404687T>C | CA399581818 | CAVIN1 | c.1173A>G (p.Ter391Trp)
| gnomAD v4 |
17 | g.42404687T>G | CA399581823 | CAVIN1 | c.1173A>C (p.Ter391Cys)
| |
17 | g.42404688C>A | CA399581826 | CAVIN1 | c.1172G>T (p.Ter391Leu)
| gnomAD v4 |
17 | g.42404688C= | CA2260466748 | CAVIN1 | c.1172G= (p.Ter391=)
| |
17 | g.42404688C>G | CA399581830 | CAVIN1 | c.1172G>C (p.Ter391Ser)
| |
17 | g.42404688C>T | CA500060279 | CAVIN1 | c.1172G>A (p.Ter391=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42404689A= | CA2260466749 | CAVIN1 | c.1171T= (p.Ter391=)
| |
17 | g.42404689A>C | CA399581845 | CAVIN1 | c.1171T>G (p.Ter391Gly)
| gnomAD v4 |
17 | g.42404689A>G | CA399581842 | CAVIN1 | c.1171T>C (p.Ter391Arg)
| dbSNP gnomAD v4 |
17 | g.42404689A>T | CA399581834 | CAVIN1 | c.1171T>A (p.Ter391Arg)
| gnomAD v4 |
17 | g.42404690G>A | CA500060281 | CAVIN1 | c.1170C>T (p.Asp390=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42404690G>C | CA399581859 | CAVIN1 | c.1170C>G (p.Asp390Glu)
| gnomAD v4 |
17 | g.42404690G= | CA2260466750 | CAVIN1 | c.1170C= (p.Asp390=)
| |
17 | g.42404690G>T | CA399581864 | CAVIN1 | c.1170C>A (p.Asp390Glu)
| gnomAD v4 |
17 | g.42404691T>A | CA399581868 | CAVIN1 | c.1169A>T (p.Asp390Val)
| gnomAD v4 |
17 | g.42404691T>C | CA399581871 | CAVIN1 | c.1169A>G (p.Asp390Gly)
| gnomAD v4 |
17 | g.42404691T>G | CA399581877 | CAVIN1 | c.1169A>C (p.Asp390Ala)
| |
17 | g.42404692C>A | CA399581879 | CAVIN1 | c.1168G>T (p.Asp390Tyr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42404692C= | CA2260466751 | CAVIN1 | c.1168G= (p.Asp390=)
| |
17 | g.42404692C>G | CA399581888 | CAVIN1 | c.1168G>C (p.Asp390His)
| |
17 | g.42404692C>T | CA399581891 | CAVIN1 | c.1168G>A (p.Asp390Asn)
| gnomAD v4 |
17 | g.42404693G>A | CA500060284 | CAVIN1 | c.1167C>T (p.Ser389=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42404693G>C | CA399581894 | CAVIN1 | c.1167C>G (p.Ser389Arg)
| |
17 | g.42404693G= | CA2260466752 | CAVIN1 | c.1167C= (p.Ser389=)
| |
17 | g.42404693G>T | CA399581898 | CAVIN1 | c.1167C>A (p.Ser389Arg)
| gnomAD v4 |
17 | g.42404694C>A | CA399581902 | CAVIN1 | c.1166G>T (p.Ser389Ile)
| gnomAD v4 |
17 | g.42404694C= | CA2260466753 | CAVIN1 | c.1166G= (p.Ser389=)
| |
17 | g.42404694C>G | CA399581904 | CAVIN1 | c.1166G>C (p.Ser389Thr)
| dbSNP gnomAD v2 |
17 | g.42404694C>T | CA399581915 | CAVIN1 | c.1166G>A (p.Ser389Asn)
| gnomAD v4 |
17 | g.42404695T>A | CA399581918 | CAVIN1 | c.1165A>T (p.Ser389Cys)
| dbSNP gnomAD v4 |
17 | g.42404695T>C | CA399581920 | CAVIN1 | c.1165A>G (p.Ser389Gly)
| dbSNP gnomAD v4 |
17 | g.42404695T>G | CA399581929 | CAVIN1 | c.1165A>C (p.Ser389Arg)
| |
17 | g.42404695T= | CA2260466754 | CAVIN1 | c.1165A= (p.Ser389=)
| |
17 | g.42404696G>A | CA500060286 | CAVIN1 | c.1164C>T (p.Asp388=)
| gnomAD v4 |
17 | g.42404696G>C | CA399581934 | CAVIN1 | c.1164C>G (p.Asp388Glu)
| gnomAD v4 |
17 | g.42404696G>T | CA399581939 | CAVIN1 | c.1164C>A (p.Asp388Glu)
| gnomAD v4 |
17 | g.42404697T>A | CA399581942 | CAVIN1 | c.1163A>T (p.Asp388Val)
| gnomAD v4 |
17 | g.42404697T>C | CA399581947 | CAVIN1 | c.1163A>G (p.Asp388Gly)
| gnomAD v4 |
17 | g.42404697T>G | CA399581953 | CAVIN1 | c.1163A>C (p.Asp388Ala)
| |
17 | g.42404698C>A | CA399581964 | CAVIN1 | c.1162G>T (p.Asp388Tyr)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42404698C= | CA2260466755 | CAVIN1 | c.1162G= (p.Asp388=)
| |
17 | g.42404698C>G | CA399581966 | CAVIN1 | c.1162G>C (p.Asp388His)
| gnomAD v4 |
17 | g.42404698C>T | CA399581967 | CAVIN1 | c.1162G>A (p.Asp388Asn)
| gnomAD v4 |
17 | g.42404699_42404700del | CA2576275143 | CAVIN1 | c.1161_1162del (p.Ser387ArgfsTer?)
| |
17 | g.42404699G>A | CA500060287 | CAVIN1 | c.1161C>T (p.Ser387=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42404699G>C | CA399581968 | CAVIN1 | c.1161C>G (p.Ser387Arg)
| |
17 | g.42404699G= | CA2260466756 | CAVIN1 | c.1161C= (p.Ser387=)
| |
17 | g.42404699G>T | CA290750193 | CAVIN1 | c.1161C>A (p.Ser387Arg)
| dbSNP gnomAD v4 |
17 | g.42404700C>A | CA399581970 | CAVIN1 | c.1160G>T (p.Ser387Ile)
| gnomAD v4 |
17 | g.42404700C>G | CA399581977 | CAVIN1 | c.1160G>C (p.Ser387Thr)
| |
17 | g.42404700C>T | CA399581979 | CAVIN1 | c.1160G>A (p.Ser387Asn)
| gnomAD v4 |
17 | g.42404701T>A | CA399581988 | CAVIN1 | c.1159A>T (p.Ser387Cys)
| gnomAD v4 |
17 | g.42404701T>C | CA399581985 | CAVIN1 | c.1159A>G (p.Ser387Gly)
| gnomAD v4 |
17 | g.42404701T>G | CA399581983 | CAVIN1 | c.1159A>C (p.Ser387Arg)
| |
17 | g.42404702C>A | CA399581992 | CAVIN1 | c.1158G>T (p.Lys386Asn)
| gnomAD v4 |
17 | g.42404702C>G | CA399582001 | CAVIN1 | c.1158G>C (p.Lys386Asn)
| |
17 | g.42404702C>T | CA500215440 | CAVIN1 | c.1158G>A (p.Lys386=)
| gnomAD v4 |
17 | g.42404703T>A | CA399582011 | CAVIN1 | c.1157A>T (p.Lys386Met)
| gnomAD v4 |
17 | g.42404703T>C | CA399582014 | CAVIN1 | c.1157A>G (p.Lys386Arg)
| gnomAD v4 |
17 | g.42404703T>G | CA399582017 | CAVIN1 | c.1157A>C (p.Lys386Thr)
| |
17 | g.42404704del | CA2637956453 | CAVIN1 | c.1157del (p.Lys386ArgfsTer?)
| gnomAD v4 |
17 | g.42404704T>A | CA399582020 | CAVIN1 | c.1156A>T (p.Lys386Ter)
| gnomAD v4 |
17 | g.42404704T>C | CA399582021 | CAVIN1 | c.1156A>G (p.Lys386Glu)
| gnomAD v4 |
17 | g.42404704T>G | CA399582024 | CAVIN1 | c.1156A>C (p.Lys386Gln)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42404704T= | CA2260466757 | CAVIN1 | c.1156A= (p.Lys386=)
| |
17 | g.42404704_42404732delinsTGTCCACCAGCACGGCGTCCGACTCCTCG | CA2260466758 | CAVIN1 | c.1128_1156delinsCGAGGAGTCGGACGCCGTGCTGGTGGACA (p.Thr376=)
| |
17 | g.42404705G>A | CA500215441 | CAVIN1 | c.1155C>T (p.Asp385=)
| gnomAD v4 |
17 | g.42404705G>C | CA399582029 | CAVIN1 | c.1155C>G (p.Asp385Glu)
| |
17 | g.42404705G>T | CA399582038 | CAVIN1 | c.1155C>A (p.Asp385Glu)
| gnomAD v4 |
17 | g.42404707_42404734del | CA772120449 | CAVIN1 | c.1128_1155del (p.Glu377ArgfsTer?)
| dbSNP |
17 | g.42404706T>A | CA399582042 | CAVIN1 | c.1154A>T (p.Asp385Val)
| gnomAD v4 |
17 | g.42404706T>C | CA399582065 | CAVIN1 | c.1154A>G (p.Asp385Gly)
| gnomAD v4 |
17 | g.42404706T>G | CA399582069 | CAVIN1 | c.1154A>C (p.Asp385Ala)
| |
17 | g.42404707C>A | CA399582077 | CAVIN1 | c.1153G>T (p.Asp385Tyr)
| gnomAD v4 |
17 | g.42404707C= | CA2260466759 | CAVIN1 | c.1153G= (p.Asp385=)
| |
17 | g.42404707C>G | CA399582073 | CAVIN1 | c.1153G>C (p.Asp385His)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42404707C>T | CA399582076 | CAVIN1 | c.1153G>A (p.Asp385Asn)
| gnomAD v4 |
17 | g.42404708del | CA2637956454 | CAVIN1 | c.1153del (p.Asp385ThrfsTer?)
| gnomAD v4 |
17 | g.42404708C>A | CA500215442 | CAVIN1 | c.1152G>T (p.Val384=)
| gnomAD v4 |
17 | g.42404708C= | CA2260466760 | CAVIN1 | c.1152G= (p.Val384=)
| |
17 | g.42404708C>G | CA500215443 | CAVIN1 | c.1152G>C (p.Val384=)
| |
17 | g.42404708C>T | CA290750203 | CAVIN1 | c.1152G>A (p.Val384=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42404709A>C | CA399582082 | CAVIN1 | c.1151T>G (p.Val384Gly)
| |
17 | g.42404709A>G | CA399582085 | CAVIN1 | c.1151T>C (p.Val384Ala)
| gnomAD v4 |
17 | g.42404709A>T | CA399582087 | CAVIN1 | c.1151T>A (p.Val384Glu)
| gnomAD v4 |
17 | g.42404710C>A | CA399582093 | CAVIN1 | c.1150G>T (p.Val384Leu)
| gnomAD v4 |
17 | g.42404710C= | CA2260466761 | CAVIN1 | c.1150G= (p.Val384=)
| |
17 | g.42404710C>G | CA399582096 | CAVIN1 | c.1150G>C (p.Val384Leu)
| gnomAD v4 |
17 | g.42404710C>T | CA290750229 | CAVIN1 | c.1150G>A (p.Val384Met)
| dbSNP gnomAD v4 |
17 | g.42404711del | CA2637956455 | CAVIN1 | c.1150del (p.Val384TrpfsTer?)
| gnomAD v4 |
17 | g.42404711C>A | CA500215445 | CAVIN1 | c.1149G>T (p.Leu383=)
| gnomAD v4 |
17 | g.42404711C= | CA2260466762 | CAVIN1 | c.1149G= (p.Leu383=)
| |
17 | g.42404711C>G | CA500215444 | CAVIN1 | c.1149G>C (p.Leu383=)
| gnomAD v4 |
17 | g.42404711C>T | CA500215446 | CAVIN1 | c.1149G>A (p.Leu383=)
| dbSNP gnomAD v4 |
17 | g.42404712A>C | CA399582100 | CAVIN1 | c.1148T>G (p.Leu383Arg)
| |
17 | g.42404712A>G | CA399582102 | CAVIN1 | c.1148T>C (p.Leu383Pro)
| gnomAD v4 |
17 | g.42404712A>T | CA399582106 | CAVIN1 | c.1148T>A (p.Leu383Gln)
| gnomAD v4 |
17 | g.42404713G>A | CA500215447 | CAVIN1 | c.1147C>T (p.Leu383=)
| gnomAD v4 |
17 | g.42404713G>C | CA399582107 | CAVIN1 | c.1147C>G (p.Leu383Val)
| |
17 | g.42404713G= | CA2260466763 | CAVIN1 | c.1147C= (p.Leu383=)
| |
17 | g.42404713G>T | CA290750235 | CAVIN1 | c.1147C>A (p.Leu383Met)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42404714C>A | CA500215448 | CAVIN1 | c.1146G>T (p.Val382=)
| gnomAD v4 |
17 | g.42404714C>G | CA500215450 | CAVIN1 | c.1146G>C (p.Val382=)
| |
17 | g.42404714C>T | CA500215449 | CAVIN1 | c.1146G>A (p.Val382=)
| gnomAD v4 |
17 | g.42404715A= | CA2260466764 | CAVIN1 | c.1145T= (p.Val382=)
| |
17 | g.42404715A>C | CA399582112 | CAVIN1 | c.1145T>G (p.Val382Gly)
| |
17 | g.42404715A>G | CA399582110 | CAVIN1 | c.1145T>C (p.Val382Ala)
| gnomAD v4 |
17 | g.42404715A>T | CA399582108 | CAVIN1 | c.1145T>A (p.Val382Glu)
| |
17 | g.42404716C>A | CA8575744 | CAVIN1 | c.1144G>T (p.Val382Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42404716C= | CA2260466765 | CAVIN1 | c.1144G= (p.Val382=)
| |
17 | g.42404716C>G | CA399582124 | CAVIN1 | c.1144G>C (p.Val382Leu)
| |
17 | g.42404716C>T | CA399582121 | CAVIN1 | c.1144G>A (p.Val382Met)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42404719_42404733dup | CA983833721 | CAVIN1 | c.1130_1144dup (p.Ala381_Val382insGluGluSerAspAla)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.42404717G>A | CA290750266 | CAVIN1 | c.1143C>T (p.Ala381=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42404717G>C | CA500215451 | CAVIN1 | c.1143C>G (p.Ala381=)
| gnomAD v4 COSMIC |
17 | g.42404717G= | CA2260466766 | CAVIN1 | c.1143C= (p.Ala381=)
| |
17 | g.42404717G>T | CA500215452 | CAVIN1 | c.1143C>A (p.Ala381=)
| gnomAD v4 |
17 | g.42404718G>A | CA399582145 | CAVIN1 | c.1142C>T (p.Ala381Val)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42404718G>C | CA399582148 | CAVIN1 | c.1142C>G (p.Ala381Gly)
| dbSNP |
17 | g.42404718G= | CA2260466767 | CAVIN1 | c.1142C= (p.Ala381=)
| |
17 | g.42404718G>T | CA399582156 | CAVIN1 | c.1142C>A (p.Ala381Asp)
| gnomAD v4 |
17 | g.42404719C>A | CA399582163 | CAVIN1 | c.1141G>T (p.Ala381Ser)
| gnomAD v4 |
17 | g.42404719C= | CA2260466768 | CAVIN1 | c.1141G= (p.Ala381=)
| |
17 | g.42404719C>G | CA399582167 | CAVIN1 | c.1141G>C (p.Ala381Pro)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42404719C>T | CA399582182 | CAVIN1 | c.1141G>A (p.Ala381Thr)
| dbSNP gnomAD v4 |
17 | g.42404720G>A | CA500215453 | CAVIN1 | c.1140C>T (p.Asp380=)
| dbSNP gnomAD v4 |
17 | g.42404720G>C | CA399582185 | CAVIN1 | c.1140C>G (p.Asp380Glu)
| dbSNP gnomAD v2 |
17 | g.42404720G= | CA2260466769 | CAVIN1 | c.1140C= (p.Asp380=)
| |
17 | g.42404720G>T | CA399582189 | CAVIN1 | c.1140C>A (p.Asp380Glu)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.42404721T>A | CA399582192 | CAVIN1 | c.1139A>T (p.Asp380Val)
| dbSNP gnomAD v4 |
17 | g.42404721T>C | CA399582197 | CAVIN1 | c.1139A>G (p.Asp380Gly)
| gnomAD v4 |
17 | g.42404721T>G | CA399582200 | CAVIN1 | c.1139A>C (p.Asp380Ala)
| |
17 | g.42404721T= | CA2260466770 | CAVIN1 | c.1139A= (p.Asp380=)
| |
17 | g.42404722C>A | CA399582214 | CAVIN1 | c.1138G>T (p.Asp380Tyr)
| dbSNP gnomAD v4 |
17 | g.42404722C= | CA2260466771 | CAVIN1 | c.1138G= (p.Asp380=)
| |
17 | g.42404722C>G | CA399582210 | CAVIN1 | c.1138G>C (p.Asp380His)
| ClinVar dbSNP gnomAD v4 |
17 | g.42404722C>T | CA399582212 | CAVIN1 | c.1138G>A (p.Asp380Asn)
| gnomAD v4 |
17 | g.42404722_42404723insGGT | CA2260466773 | CAVIN1 | c.1137_1138insACC (p.Ser379_Asp380insThr)
| dbSNP |
17 | g.42404723C>A | CA8575745 | CAVIN1 | c.1137G>T (p.Ser379=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42404723C= | CA2260466772 | CAVIN1 | c.1137G= (p.Ser379=)
| |
17 | g.42404723C>G | CA500215454 | CAVIN1 | c.1137G>C (p.Ser379=)
| dbSNP gnomAD v4 |
17 | g.42404723C>T | CA500215455 | CAVIN1 | c.1137G>A (p.Ser379=)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.42404724G>A | CA399582222 | CAVIN1 | c.1136C>T (p.Ser379Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42404724G>C | CA399582233 | CAVIN1 | c.1136C>G (p.Ser379Trp)
| |
17 | g.42404724G= | CA2260466774 | CAVIN1 | c.1136C= (p.Ser379=)
| |
17 | g.42404724G>T | CA8575746 | CAVIN1 | c.1136C>A (p.Ser379Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42404725A>C | CA399582240 | CAVIN1 | c.1135T>G (p.Ser379Ala)
| gnomAD v4 |
17 | g.42404725A>G | CA399582244 | CAVIN1 | c.1135T>C (p.Ser379Pro)
| dbSNP |
17 | g.42404725A>T | CA399582246 | CAVIN1 | c.1135T>A (p.Ser379Thr)
| gnomAD v4 |
17 | g.42404726C>A | CA399582251 | CAVIN1 | c.1134G>T (p.Glu378Asp)
| gnomAD v4 |
17 | g.42404726C>G | CA399582254 | CAVIN1 | c.1134G>C (p.Glu378Asp)
| |
17 | g.42404726C>T | CA500215456 | CAVIN1 | c.1134G>A (p.Glu378=)
| gnomAD v4 |
17 | g.42404729_42404731dup | CA2594068998 | CAVIN1 | c.1132_1134dup (p.Glu378_Ser379insGlu)
| gnomAD v3 gnomAD v4 |
17 | g.42404727T>A | CA399582259 | CAVIN1 | c.1133A>T (p.Glu378Val)
| |
17 | g.42404727T>C | CA399582263 | CAVIN1 | c.1133A>G (p.Glu378Gly)
| gnomAD v4 |
17 | g.42404727T>G | CA399582266 | CAVIN1 | c.1133A>C (p.Glu378Ala)
| |
17 | g.42404728C>A | CA399582278 | CAVIN1 | c.1132G>T (p.Glu378Ter)
| gnomAD v4 |
17 | g.42404728C= | CA2260466775 | CAVIN1 | c.1132G= (p.Glu378=)
| |
17 | g.42404728C>G | CA399582275 | CAVIN1 | c.1132G>C (p.Glu378Gln)
| dbSNP |
17 | g.42404728C>T | CA399582271 | CAVIN1 | c.1132G>A (p.Glu378Lys)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42404729C>A | CA399582288 | CAVIN1 | c.1131G>T (p.Glu377Asp)
| dbSNP gnomAD v4 |
17 | g.42404729C= | CA2260466776 | CAVIN1 | c.1131G= (p.Glu377=)
| |
17 | g.42404729C>G | CA399582283 | CAVIN1 | c.1131G>C (p.Glu377Asp)
| gnomAD v4 |
17 | g.42404729C>T | CA500215457 | CAVIN1 | c.1131G>A (p.Glu377=)
| gnomAD v4 |
17 | g.42404730T>A | CA399582290 | CAVIN1 | c.1130A>T (p.Glu377Val)
| |
17 | g.42404730T>C | CA399582297 | CAVIN1 | c.1130A>G (p.Glu377Gly)
| gnomAD v4 |
17 | g.42404730T>G | CA399582300 | CAVIN1 | c.1130A>C (p.Glu377Ala)
| |
17 | g.42404731C>A | CA399582303 | CAVIN1 | c.1129G>T (p.Glu377Ter)
| gnomAD v4 |
17 | g.42404731C>G | CA399582306 | CAVIN1 | c.1129G>C (p.Glu377Gln)
| gnomAD v4 |
17 | g.42404731C>T | CA399582308 | CAVIN1 | c.1129G>A (p.Glu377Lys)
| gnomAD v4 |
17 | g.42404732G>A | CA8575747 | CAVIN1 | c.1128C>T (p.Thr376=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42404732G>C | CA500215459 | CAVIN1 | c.1128C>G (p.Thr376=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42404732G= | CA2260466777 | CAVIN1 | c.1128C= (p.Thr376=)
| |
17 | g.42404732G>T | CA500215458 | CAVIN1 | c.1128C>A (p.Thr376=)
| gnomAD v4 |
17 | g.42404732_42404735dup | CA2637956456 | CAVIN1 | c.1125_1128dup (p.Glu377HisfsTer?)
| gnomAD v4 |
17 | g.42404733G>A | CA399582315 | CAVIN1 | c.1127C>T (p.Thr376Ile)
| gnomAD v4 |
17 | g.42404733G>C | CA399582319 | CAVIN1 | c.1127C>G (p.Thr376Ser)
| |
17 | g.42404733G>T | CA399582321 | CAVIN1 | c.1127C>A (p.Thr376Asn)
| gnomAD v4 |